Topic 10: Activity 1-Genetic Disorders

TOPIC 10: Activity 1- GENETIC DISORDERS
Direction: Complete the table below. List down ten common genetic disorders.
Genetic Disorder Gene/ Defect Clinical Features

1. Angelman - Angelman syndrome - Angelman syndrome is a
syndrome is a genetic disorder. It complex genetic disorder
causes delayed that primarily affects the
development, nervous system.
problems with speech Characteristic features of
and balance, this condition include
intellectual disability, delayed development,
and sometimes, intellectual disability,
seizures. People with severe speech
Angelman syndrome impairment, and problems
often smile and laugh with movement and
frequently, and have balance (ataxia).
happy, excitable
personalities.
2. Albinism - Albinism occurs - clinical features of

when one of several albinism are associated
genetic defects makes with hypopigmentation,
the body unable to which results in pale skin,
produce or distribute susceptible to skin cancer,
melanin. These defects and impaired vision.
may be passed down
(inherited) through
families. The most
severe form of
albinism is called
oculocutaneous
albinism. People with
this type of albinism
have white or pink
hair, skin, and iris
color.
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3. Cystic - Cystic fibrosis is a - Cystic fibrosis (CF) is
fibrosis (CF) progressive, genetic an inherited disorder that
disease that causes causes severe damage to
persistent lung the lungs, digestive
infections and limits system and other organs
the ability to breathe in the body.
over time. In people Cystic fibrosis affects the
with CF, mutations in cells that produce mucus,
the cystic fibrosis sweat and digestive
transmembrane juices.
conductance regulator
(CFTR) gene cause
the CFTR protein to
become dysfunctional.
4. Down - Down syndrome is a - Down syndrome varies

syndrome condition in which a in severity among
person has an extra individuals, causing
chromosome. lifelong intellectual
Chromosomes are disability and
small “packages” of developmental delays. It's
genes in the body. the most common genetic
Typically, a baby is chromosomal disorder
born with 46 and cause of learning
chromosomes. Babies disabilities in children. It
with Down syndrome also commonly causes
have an extra copy of other medical
one of these abnormalities, including
chromosomes, heart and gastrointestinal
chromosome 21. disorders.
5. Apert syndrome - Apert syndrome is a -tall skull and high
rare genetic condition prominent forehead.
that is apparent at underdeveloped upper
birth. People with jaw. prominent eyes that
Apert syndrome can appear to be bulging out
have distinctive and may be spaced widely
malformations of the apart. small nose.
skull, face, hands, and
feet. Apert syndrome
is characterized by
craniosynostosis, a
condition in which the
fibrous joints (sutures)
between bones of the
skull close
prematurely.
5. Ankylosing - Ankylosing - Early signs and
spondylitis spondylitis has no symptoms of ankylosing
known specific cause, spondylitis might include
though genetic factors pain and stiffness in your
seem to be involved. lower back and hips,
In particular, people especially in the morning
who have a gene and after periods of
called HLA-B27 are at inactivity. Neck pain and
a greatly increased fatigue also are common.
risk of developing Over time, symptoms
ankylosing might worsen, improve or
spondylitis. However, stop at irregular intervals.
only some people with
the gene develop the
condition.
7. Tay- sashs disease - Tay-Sachs disease is - Affected infants lose

inherited in an motor skills such as
autosomal recessive turning over, sitting, and
manner. The disorder crawling. They also
results from changes develop an exaggerated
(mutations) of a gene startle reaction to loud
known as the HEXA noises. As the disease
gene, which regulates progresses, children with
production of the Tay-Sachs disease
hexosaminidase A experience seizures,
enzyme. The HEXA vision and hearing loss,
gene has been mapped intellectual disability, and
to the long arm (q) of paralysis.
chromosome 15
(15q23-q24).
8. Thalassemia - thalassemia is - The disorder results in
inherited in an excessive destruction of
autosomal recessive red blood cells, which
manner; however, the leads to anemia. Anemia
inheritance can be is a condition in which
quite complex as your body doesn’t have
multiple genes can enough normal, healthy
influence the red blood cells.
production of
hemoglobin. Most
people affected by
beta thalassemia have
mutations in both
copies of the HBB
gene in each cell.
9. Cystic Fibrosis - Cystic fibrosis is - Cystic fibrosis affects
caused by mutations in the cells that produce
the gene that produces sweat, mucus, and
the cystic fibrosis digestive enzymes.
transmembrane Normally, these secreted
conductance regulator fluids are thin and smooth
(CFTR) protein. This like olive oil. They
protein is responsible lubricate various organs
for regulating the flow and tissues, preventing
of salt and fluids in them from getting too dry
and out of the cells in or infected.
different parts of the
body.
10. Sickle Cell Anemia - Sickle cell disease is - Shortness of breath and
caused by a mutation fatigue are common
in the hemoglobin- symptoms of this
Beta gene found on condition, which can be
chromosome 11. fatal. Organ damage.
Hemoglobin transports Sickle cells that block
oxygen from the lungs blood flow to organs
to other parts of the deprive the affected
body. Red blood cells organs of blood and
with normal oxygen. In sickle cell
hemoglobin anemia, blood is also
(hemoglobin-A) are chronically low in
smooth and round and oxygen.
glide through blood
vessels.
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TOPIC 10: Activity 1- GENETIC DISORDERS

Genetic Disorder Gene/ Defect Clinical Features

2. Albinism - Albinism occurs - clinical features of

4. Down - Down syndrome is a - Down syndrome varies

7. Tay- sashs disease - Tay-Sachs disease is - Affected infants lose

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